Abstrakt

BMP4 Gene and Pathophysiology of Cleft Lip and Palate.

Savitha Sathyaprasad, Sharma SM, and Veena Shetty

The rapid proliferative expansion and complex morphogenetic events that coordinate the development of face underpin the sensitivity of the structure to genetic and environmental insult and provide an explanation for the high incidence of midfacial malformation. Most notable of these malformations is cleft lip with or without palate. Despite the global impact of the disorder and some recent progress in identifying the causative genes for the non - syndromic forms of CLP, our knowledge on the key genetic factors and the environmental mutants therein contributing to CLP remains still remarkably patchy. The current understanding of the molecular and cellular processes that orchestrate morphogenesis of the midface, with emphasis on events leading to the fusion of the lip and primary palate is detailed in this review. The role of the candidate gene BMP4 in nsCLP, identified from relevant animal model systems and the likely events perturbed by the key gene pin pointed in human studies are discussed in this light. In this present review the normal craniofacial patterning and morphogenesis of lip and palate are discussed with a focus on the role of BMP signaling therein.